MCID: GNT033
MIFTS: 27

Genetic Prion Diseases malady

Category: Genetic diseases (common)

Aliases & Classifications for Genetic Prion Diseases

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Aliases & Descriptions for Genetic Prion Diseases:

Name: Genetic Prion Diseases 21 22 24
Transmissible Spongiform Encephalopathies 21 22 46 2
 
Prion Diseases 65
Tses 21

Classifications:



Summaries for Genetic Prion Diseases

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NINDS:46 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.

MalaCards based summary: Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to prion disease and gerstmann syndrome. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein). Affiliated tissues include brain, breast and heart, and related mouse phenotypes are endocrine/exocrine gland and muscle.

CDC:2 Classic CJD is a human prion disease. It is a neurodegenerative disorder with characteristic clinical and diagnostic features. 

GeneReviews summary for NBK1229

Related Diseases for Genetic Prion Diseases

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Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to genetic prion diseases

Symptoms for Genetic Prion Diseases

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Drugs & Therapeutics for Genetic Prion Diseases

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

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Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases22 PRNP

Anatomical Context for Genetic Prion Diseases

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MalaCards organs/tissues related to Genetic Prion Diseases:

33
Brain, Breast, Heart, Thyroid, Monocytes, B cells

Animal Models for Genetic Prion Diseases or affiliated genes

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MGI Mouse Phenotypes related to Genetic Prion Diseases:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.6APOE, HLA-DQB1, PRNP
2MP:00053698.5APOE, HLA-DQB1, PRNP
3MP:00053898.4APOE, HLA-DQB1, PRNP

Publications for Genetic Prion Diseases

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Articles related to Genetic Prion Diseases:

(show all 20)
idTitleAuthorsYear
1
Optic Nerve Sheath Meningioma Masquerading as Optic Neuritis. (26904329)
2016
2
Network pharmacology-based prediction of the active ingredients and potential targets of Mahuang Fuzi Xixin decoction for application to allergic rhinitis. (26545458)
2015
3
Caveolin-1 functions as a key regulator of 17I^-estradiol-mediated autophagy and apoptosis in BT474 breast cancer cells. (25017566)
2014
4
Suppressive chemoprophylaxis invites avoidable risk of serious illness caused by Plasmodium vivax malaria. (23454204)
2013
5
Axillary artery thrombosis in a major league baseball pitcher: a case report and rehabilitation guide. (24427409)
2013
6
Three-Dimensional Assessment of Facial Appearance Following Surgical Repair of Unilateral Cleft Lip and Palate. (23369016)
2013
7
Tetanus seropositive prevalence and perceived protection from emergency admissions. (22461848)
2012
8
Nonspecific interstitial pneumonia: a study of 6 patients with progressive disease. (22173118)
2012
9
Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels. (20066028)
2010
10
Post-translational modification and proteolytic processing of urinary osteopontin. (18072945)
2008
11
A regular pattern of Ig super-motifs defines segmental flexibility as the elastic mechanism of the titin chain. (18212128)
2008
12
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. (17224686)
2007
13
Protein-induced surface structuring in myelin membrane monolayers. (17905850)
2007
14
Identification of WNK1 as a substrate of Akt/protein kinase B and a negative regulator of insulin-stimulated mitogenesis in 3T3-L1 cells. (15799971)
2005
15
Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation. (15142876)
2004
16
Renal angiomyolipoma: further immunophenotypic characterization of an expanding morphologic spectrum. (11371226)
2001
17
Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples. (10637510)
1999
18
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. (10443650)
1999
19
Phenotypic alterations in circulating monocytes induced by open heart surgery using heparinized and nonheparinized cardiopulmonary bypass systems. (9335367)
1997
20
Primary malignant teratoma of the thyroid: case report and literature review of cervical teratomas in adults. (352506)
1978

Variations for Genetic Prion Diseases

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Expression for genes affiliated with Genetic Prion Diseases

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Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for genes affiliated with Genetic Prion Diseases

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GO Terms for genes affiliated with Genetic Prion Diseases

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Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to oxidative stressGO:00069799.0APOE, PRNP

Sources for Genetic Prion Diseases

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet